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1.
Medicina (Kaunas) ; 60(6)2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38929507

RESUMO

Background: Preeclampsia (PE) is a critical condition affecting pregnancies worldwide. Understanding its etiology, particularly the genetic factors, is vital. This study aims to investigate the association between ACE gene polymorphisms, specifically the ACE G2350A (rs4343) variant, and the predisposition to PE, offering insights into the genetic predisposition towards this complex condition. Methods: A case-control study was conducted with 140 participants without PE (Control Group) and 128 participants diagnosed with PE (PE Group). The study focused on comparing the prevalence of the rs4343 polymorphism between the groups. Results: The analysis identified a significantly reduced risk associated with the AG genotype and an insignificant increase in risk with the AA genotype. Statistically significant differences in demographic and clinical characteristics, such as BMI and marital status, were observed between the groups, suggesting a multifaceted risk profile for PE that includes genetic, environmental, and socio-economic factors. Conclusions: The study highlight the significant role of genetic variations, specifically the ACE G2350A (rs4343) polymorphism, in influencing PE predisposition. It highlights the intricate interplay between genetic predispositions and other risk factors in the development of PE. Further research is encouraged to expand on these findings and explore a wider range of genetic polymorphisms and their interactions with environmental factors.


Assuntos
Predisposição Genética para Doença , Pré-Eclâmpsia , Humanos , Pré-Eclâmpsia/genética , Pré-Eclâmpsia/epidemiologia , Feminino , Gravidez , Estudos de Casos e Controles , Adulto , Fatores de Risco , Peptidil Dipeptidase A/genética , Polimorfismo Genético , Fatores Socioeconômicos , Genótipo , Polimorfismo de Nucleotídeo Único
2.
J Pers Med ; 14(7)2024 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-39063971

RESUMO

Cytochrome P450 1A2 (CYP1A2) is known to be the main enzyme directly responsible for caffeine metabolism. Rs762551 (NC_000015.10:g.74749576C>A) is a single nucleotide polymorphism of the CYP1A2 gene, and it is known mainly for metabolizing caffeine. A significant worldwide health issue, type 2 diabetes (T2DM), has been reported to be negatively associated with coffee consumption. Yet, some studies have proven that high intakes of coffee can lead to a late onset of T2DM. OBJECTIVES: This study aims to find any significant correlations among CYP1A2 polymorphism, coffee consumption, and T2DM. METHODS: A total of 358 people were enrolled in this study-218 diagnosed with T2DM, and 140 representing the control sample. The qPCR technique was performed, analyzing rs762551 (assay C_8881221) on the LightCycler 480 (Roche, Basel, Switzerland) with Gene Scanning software version 1.5.1 (Roche). RESULTS: Our first observation was that the diabetic patients were likely to consume more coffee than the non-diabetic subjects. People with the AA genotype, or the fast metabolizers, are the least common, yet they are the highest coffee consumers and present the highest glucose and cholesterol levels. Another important finding is the correlation between coffee intake and glucose level, which showed statistically significant differences between the diabetic group (p = 0.0002) and the control group (p = 0.029). CONCLUSIONS: The main conclusion of this study is that according to genotype, caffeine levels, glucose, and cholesterol are interconnected and proportionally related, regardless of type 2 diabetes.

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